Severe pulmonary insufficiency caused by Fallot-type absent pulmonary valve syndrome: A rare reason for neonatal central cyanosis.

INTRODUCTION: Absent Pulmonary Valve Syndrome (APVS) is a rare birth defect where the pulmonary valve is missing or underdeveloped. APVS often occurs alongside Tetralogy of Fallot, (TOF) another heart defect. PRESENTATION OF CASE: A 33-year-old woman gave birth to a male infant with severe pulmonary stenosis (PS) and a large ventricular septal defect (VSD). The infant underwent surgery to close the VSD and resect the stenotic ring. Two years later, he remained asymptomatic with a closed VSD and no pulmonary valve gradient. DISCUSSION: Despite high mortality rates, long-term survival has improved with advancements in surgical repair. This case underscores the significance of early detection and personalized surgical strategies for complex congenital heart defects. CONCLUSION: Early identification of subtle symptoms is crucial for timely intervention, while individualized surgical strategies optimize outcomes. Further research is needed to understand the complex interplay of cardiac anomalies in APVS, particularly the absence of a patent ductus arteriosus in this case.

Screening for aortic stenosis using physical examination and echocardiography.

Most patients with aortic stenosis (AS) can be treated with either traditional surgical aortic valve replacement or newly emerged transcatheter aortic valve implantation. Therefore, the early and appropriate detection of significant AS has become more important for avoiding overlooking patients who require treatment. AS is initially detected by the presence of a systolic ejection murmur (SEM). However, it is time-consuming and expensive for all subjects presenting with SEM to undergo comprehensive standard echocardiography using high-end ultrasound machines since the SEM is audible in a large proportion of elderly patients and is not specific for significant AS. Therefore, further physical examination and/or focused cardiac ultrasound (FoCUS) is required to determine whether patients with a SEM should be referred for standard echocardiography. One or more abnormal physical findings in addition to a SEM can rule out a certain proportion of normal cases without overlooking severe AS. Most of the previous studies suggesting the usefulness of FoCUS in screening for valvular heart disease only used visual impressions in their assessment of AS. By contrast, visual AS and calcification scores are good objective parameters in screening for AS with FoCUS. Patients with severe AS and patients with a high probability of AS-related events are rarely overlooked even if comprehensive standard echocardiography is performed only when either (or both) of the FoCUS scores is 3 or more. The appropriate combination of physical examinations and FoCUS to screen for AS is discussed in this review article.